Variant report

Variant	rs1166788
Chromosome Location	chr12:120694802-120694803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120694717..120696414-chr12:120727839..120730825,2	K562	blood:
2	chr12:120692902..120700386-chr12:120700764..120704596,11	K562	blood:
3	chr12:120637449..120640321-chr12:120692742..120694999,3	K562	blood:
4	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
5	chr12:120667395..120670172-chr12:120693899..120695468,2	K562	blood:
6	chr12:120690570..120692197-chr12:120693845..120695408,2	K562	blood:

Variant related genes	Relation type
ENSG00000255857	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000089159	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10128770	0.83[AFR][1000 genomes]
rs11065052	0.80[AFR][1000 genomes]
rs1151821	0.96[ASN][1000 genomes]
rs1151822	0.93[ASN][1000 genomes]
rs1151823	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1151826	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1151828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1151831	0.93[AFR][1000 genomes]
rs1151833	1.00[ASN][1000 genomes]
rs1151834	0.97[AFR][1000 genomes]
rs1151835	1.00[ASN][1000 genomes]
rs1151836	1.00[ASN][1000 genomes]
rs1166789	0.95[ASN][1000 genomes]
rs1179386	0.95[ASN][1000 genomes]
rs12319440	0.85[AFR][1000 genomes]
rs12322327	0.95[ASN][1000 genomes]
rs12580333	0.95[ASN][1000 genomes]
rs1632619	1.00[ASN][1000 genomes]
rs1634820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1732868	0.90[AFR][1000 genomes]
rs2239207	1.00[ASN][1000 genomes]
rs2283363	0.95[ASN][1000 genomes]
rs2524389	0.92[AFR][1000 genomes]
rs2701641	1.00[ASN][1000 genomes]
rs2701642	0.97[AFR][1000 genomes]
rs58777856	0.95[ASN][1000 genomes]
rs58919380	1.00[ASN][1000 genomes]
rs60134107	1.00[ASN][1000 genomes]
rs60282545	0.95[ASN][1000 genomes]
rs61633133	1.00[ASN][1000 genomes]
rs71541558	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
2	chr12:120683200-120695200	Weak transcription	Fetal Brain Male	brain
3	chr12:120686000-120700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:120686600-120695000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:120688000-120695200	Weak transcription	Gastric	stomach
6	chr12:120688200-120695000	Weak transcription	Liver	Liver
7	chr12:120688600-120700200	Weak transcription	Fetal Kidney	kidney
8	chr12:120690400-120695000	Weak transcription	Small Intestine	intestine
9	chr12:120690400-120695200	Weak transcription	HSMMtube	muscle
10	chr12:120690400-120697800	Weak transcription	Colonic Mucosa	Colon
11	chr12:120690400-120700400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:120690600-120695200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:120691000-120695200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:120691600-120696200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:120691600-120699800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:120691800-120699800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:120692000-120695000	Weak transcription	Placenta	Placenta
18	chr12:120692200-120697400	Enhancers	Adipose Nuclei	Adipose
19	chr12:120692400-120697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:120692400-120700000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:120692600-120695000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:120692800-120695200	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr12:120692800-120696400	Enhancers	Left Ventricle	heart
24	chr12:120692800-120697400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:120693000-120695000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:120693000-120698000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:120693200-120695000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:120693200-120695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:120693200-120696400	Genic enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:120693200-120698400	Enhancers	HUVEC	blood vessel
31	chr12:120693200-120699600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:120693200-120699600	Weak transcription	Fetal Thymus	thymus
33	chr12:120693200-120700000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:120693200-120700000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:120693200-120700000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:120693200-120700800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:120693400-120695200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:120693400-120699400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr12:120694000-120695600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:120694000-120695600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr12:120694000-120696000	Enhancers	Fetal Muscle Leg	muscle
42	chr12:120694000-120696000	Genic enhancers	NHEK	skin
43	chr12:120694000-120696200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:120694000-120696400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:120694000-120696400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:120694000-120696400	Enhancers	Right Ventricle	heart
47	chr12:120694000-120696600	Enhancers	Brain Substantia Nigra	brain
48	chr12:120694000-120696600	Enhancers	Right Atrium	heart
49	chr12:120694000-120696800	Enhancers	Lung	lung
50	chr12:120694000-120697600	Enhancers	Primary T cells from cord blood	blood

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